The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.

Abstract excerpt

Anhidrotic ectodermal dysplasia (EDA) is an X-linked recessive disorder which affects ectodermal structures. A cDNA encoding a 135 amino acid protein with mutations in 5-10% of EDA patients has been reported. We have built up a complete splicing map of the EDA gene and characterized the longest and what most probably represents the full-length EDA transcript, EDA-A. It encodes a 391 amino acid transmembrane...

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